scholarly journals DETECTION OF ECUADOREAN LARON SYNDROME GENE CARRIERS BY MOLECULAR GENETIC ANALYSIS OF GUTHRIE CARD BLOOD SAMPLES

1993 ◽  
Vol 33 ◽  
pp. S69-S69
Author(s):  
M A Berg ◽  
J Guevara-Aguirre ◽  
A L Rosenbloom ◽  
U Francke
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Laron Syndrome ◽  
Guthrie Card ◽  
Blood Samples ◽  
Gene Carriers

scholarly journals Prolonged Neuromuscular Blockade Following Succinylcholine Administration to a Patient with a Reduced Butyrylcholinesterase Activity

2010 ◽  
Vol 2010 ◽  
pp. 1-4 ◽  
Author(s):  
Ivo F. Panhuizen ◽  
Marc M. J. Snoeck ◽  
Soledad Levano ◽  
Thierry Girard
Keyword(s):  
Genetic Analysis ◽  
Qualitative Analysis ◽  
Neuromuscular Blockade ◽  
Molecular Genetic ◽  
Neuromuscular Function ◽  
Molecular Genetic Analysis ◽  
Blood Samples ◽  
Clinical Considerations ◽  
Butyrylcholinesterase Activity ◽  
Prolonged Neuromuscular Blockade

This case is about a 48-year-old woman known with a reduced butyrylcholinesterase activity, who developed prolonged neuromuscular blockade following the unintentional administration of succinylcholine. We took the opportunity to monitor the development of neuromuscular function during this period and blood samples were taken for molecular genetic analysis and for quantitative and qualitative analysis since not all causative mutations are functionally characterized. Reduced butyrylcholinesterase activity is discussed in many aspects. Clinical considerations are suggested concerning genetic counselling.

scholarly journals Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene

2016 ◽  
Vol 2 (3) ◽  
pp. 261-264 ◽  
Author(s):  
Anders Krogh Broendberg ◽  
Lisbeth Noerum Pedersen ◽  
Jens Cosedis Nielsen ◽  
Henrik Kjaerulf Jensen
Keyword(s):  
Genetic Analysis ◽  
Brugada Syndrome ◽  
Molecular Genetic ◽  
Large Deletion ◽  
Molecular Genetic Analysis ◽  
Scn5a Gene

scholarly journals Molecular genetic analysis of a class B periplasmic-flagellum gene of Treponema phagedenis.

1992 ◽  
Vol 174 (20) ◽  
pp. 6404-6410 ◽  
Author(s):  
R J Limberger ◽  
L L Slivienski ◽  
D B Yelton ◽  
N W Charon
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Class B ◽  
Flagellum Gene
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